A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414209



Internal ID15261168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61440524..61440524hg38UCSC Ensembl
Innerchr8:61440523..61440525hg38UCSC Ensembl
Outerchr8:61440474..61440574hg38UCSC Ensembl
chr8:62353083..62353083hg19UCSC Ensembl
Innerchr8:62353082..62353084hg19UCSC Ensembl
Outerchr8:62353033..62353133hg19UCSC Ensembl
chr8:62515637..62515637hg18UCSC Ensembl
Innerchr8:62515638..62515636hg18UCSC Ensembl
Outerchr8:62515587..62515687hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381200
hg191200
hg181200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653583, essv8653582, essv8653584
SamplesNA19238, NA19239, NA19240
Known GenesCLVS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414209
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer